NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) AND Peroxisome biogenesis disorder 1A (Zellweger)
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000264448.5
Allele description [Variation Report for NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)]
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
Condition(s)
-
TGFB2 [Phaethon lepturus]
TGFB2 [Phaethon lepturus]Gene ID:104619128Gene
-
kirrel3b [Poecilia formosa]
kirrel3b [Poecilia formosa]Gene ID:103145345Gene
-
Adrenocortical Adenoma
Adrenocortical AdenomaA benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The fu...<br/>Year introduced: 2005 (1994)MeSH
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023